Copy number variation at the FCGR locus includes FCGR3A, FCGR2C and FCGR3B but not FCGR2A and FCGR2B.


:Human Fcgamma receptors (FcgammaRs) are glycoproteins that bind the Fc region of IgG. The genes encoding the low-affinity FcgammaRs are located on chromosome 1q23-24. Beside single nucleotide polymorphisms (SNPs), gene copy number variation (CNV) is now being recognized as an important indicator for inter-individual differences. Recent studies on identifying CNV in the human genome suggest large areas at chromosome 1q23-24 to be involved, and CNV in this region has been associated with manifestations of systemic autoimmune disease. To study both SNPs and CNV of the low-affinity FcgammaRs in one assay, we have developed a Multiplex Ligation-dependent Probe Amplification (MLPA) assay. A novel CNV for FCGR3A was observed. Similar to FCGR3B and FCGR2C, a gene-dosage effect of FCGR3A was found, that seemed to correlate nicely with the FcgammaRIIIa expression on NK cells. Next, we delineated the approximate boundaries of CNV at the FCGR locus. Variation in co-segregation of neighboring FCGR genes was limited to four variants, with patterns of Mendelian inheritance. No CNV of the FCGR2A and FCGR2B genes was observed in over 600 individuals. In conclusion, we report a novel CNV of the FCGR3A gene that correlates with FcgammaRIIIa expression and function on NK cells. Only FCGR3A, FCGR2C and FCGR3B show CNV, in contrast to FCGR2A and FCGR2B.


Hum Mutat


Human mutation


Breunis WB,van Mirre E,Geissler J,Laddach N,Wolbink G,van der Schoot E,de Haas M,de Boer M,Roos D,Kuijpers TW




Has Abstract


2009-05-01 00:00:00












  • A nationwide genetic analysis of inherited retinal diseases in Israel as assessed by the Israeli inherited retinal disease consortium (IIRDC).

    abstract::Inherited retinal diseases (IRDs) cause visual loss due to dysfunction or progressive degeneration of photoreceptors. These diseases show marked phenotypic and genetic heterogeneity. The Israeli IRD consortium (IIRDC) was established in 2013 with the goal of performing clinical and genetic mapping of the majority of I...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Sharon D,Ben-Yosef T,Goldenberg-Cohen N,Pras E,Gradstein L,Soudry S,Mezer E,Zur D,Abbasi AH,Zeitz C,Cremers FPM,Khan MI,Levy J,Rotenstreich Y,Birk OS,Ehrenberg M,Leibu R,Newman H,Shomron N,Banin E,Perlman I

    更新日期:2020-01-01 00:00:00

  • Mutations of human cationic trypsinogen (PRSS1) and chronic pancreatitis.

    abstract::Ten years ago, the groundwork for the discovery of the genetic basis of chronic pancreatitis was laid by linkage analyses of large kindreds with autosomal dominant hereditary chronic pancreatitis. Subsequent candidate gene sequencing of the 7q35 chromosome region revealed a strong association of the c.365G > A (p.R122...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: Teich N,Rosendahl J,Tóth M,Mössner J,Sahin-Tóth M

    更新日期:2006-08-01 00:00:00

  • Identification of seven novel germline mutations in the human E-cadherin (CDH1) gene.

    abstract::Hereditary diffuse gastric cancer (HDGC) is a cancer predisposition syndrome caused by germline mutation of the gene encoding the tumour-suppressor E-cadherin (CDH1). We describe the search for CDH1 mutations in 36 new diffuse gastric cancer families. All 16 CDH1 exons, neighbouring intronic sequence and an essential ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: More H,Humar B,Weber W,Ward R,Christian A,Lintott C,Graziano F,Ruzzo AM,Acosta E,Boman B,Harlan M,Ferreira P,Seruca R,Suriano G,Guilford P

    更新日期:2007-02-01 00:00:00

  • Enzymatic mutation detection (EMD) of novel mutations (R565X and R1523X) in the FBN1 gene of patients with Marfan syndrome using T4 endonuclease VII.

    abstract::The Enzymatic Mutation Detection (EMDtrade mark) method is a streamlined and improved version of the original Enzymatic Cleavage of Mismatch (EMC) method. EMD is a fully homogeneous, rapid four step procedure that allows for detection and localization of mismatched or unmatched nucleotides within heteroduplex DNA. To ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Youil R,Toner TJ,Bull E,Bailey AL,Earl CD,Dietz HC,Montgomery RA

    更新日期:2000-07-01 00:00:00

  • Two missense mutations causing mild hyperphenylalaninemia associated with DNA haplotype 12.

    abstract::The genetic defects responsible for most phenylketonuria (PKU) and hyperphenylalaninemia (HPA) cases are located in the phenylalanine hydroxylase (PAH) gene. Approximately 50-60 mutations have been reported in Caucasians and are reflected in a wide range of clinical severities. Most mutations are linked to specific ha...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Svensson E,Eisensmith RC,Dworniczak B,von Döbeln U,Hagenfeldt L,Horst J,Woo SL

    更新日期:1992-01-01 00:00:00

  • Toward a mtDNA locus-specific mutation database using the LOVD platform.

    abstract::The Human Variome Project (HVP) is a global effort to collect and curate all human genetic variation affecting health. Mutations of mitochondrial DNA (mtDNA) are an important cause of neurogenetic disease in humans; however, identification of the pathogenic mutations responsible can be problematic. In this article, we...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Elson JL,Sweeney MG,Procaccio V,Yarham JW,Salas A,Kong QP,van der Westhuizen FH,Pitceathly RD,Thorburn DR,Lott MT,Wallace DC,Taylor RW,McFarland R

    更新日期:2012-09-01 00:00:00

  • The molecular basis of phenylketonuria in Lithuania.

    abstract::We report the spectrum of phenylalanine hydroxylase (PAH) gene mutations in patients with phenylketonuria (PKU) residing in Lithuania. A total of 184 independent chromosomes was investigated. R408W mutation was first analysed through restriction enzyme digestion of exon 12. The remaining uncharacterised PKU chromosome...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Kasnauskiene J,Giannattasio S,Lattanzio P,Cimbalistiene L,Kucinskas V

    更新日期:2003-04-01 00:00:00

  • A new large CFTR rearrangement illustrates the importance of searching for complex alleles.

    abstract::The p.Val754Met variant, described in 1996 in a CF patient, has been considered a CF mutation. However, biochemical aspects, results of functional studies and, finally, the identification of a complex deletion removing exons 3 to 10 and 14b to 16 in cis of p.Val754Met in a CF patient, argue against a strong deleteriou...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Niel F,Legendre M,Bienvenu T,Bieth E,Lalau G,Sermet I,Bondeux D,Boukari R,Derelle J,Levy P,Ruszniewski P,Martin J,Costa C,Goossens M,Girodon E

    更新日期:2006-07-01 00:00:00

  • Structural and biochemical consequences of NF1 associated nontruncating mutations in the Sec14-PH module of neurofibromin.

    abstract::Neurofibromatosis type 1 (NF1) is a common genetic disorder caused by alterations in the tumor suppressor gene NF1. Clinical manifestations include various neural crest derived tumors, pigmentation anomalies, bone deformations, and learning disabilities. NF1 encodes the Ras specific GTPase activating protein (RasGAP) ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Welti S,Kühn S,D'Angelo I,Brügger B,Kaufmann D,Scheffzek K

    更新日期:2011-02-01 00:00:00

  • Effects of a 9.6-kb deletion of the LDL receptor gene (FH Helsinki) on structure and levels of mRNA.

    abstract::FH Helsinki is a deletion of the low-density lipoprotein receptor (LDLR) gene that deletes 9.6 kb from intron 15 to exon 18. Screening for mutant transcripts by Northern blot analysis from a patient heterozygous for FH Helsinki revealed two mutant transcripts. One was a transcript where the proximal part of intron 15 ...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Rødningen OK,Tonstad S,Ose L,Berg K,Leren TP

    更新日期:1998-01-01 00:00:00

  • Screening of the PKD1 duplicated region reveals multiple single nucleotide polymorphisms and a de novo mutation in Hellenic polycystic kidney disease families.

    abstract::Mutations in the PKD1 gene account for approximately 85% of cases with autosomal dominant polycystic kidney disease (ADPKD1; MIM# 601313), which is considered one of the most frequent monogenic disorders, with a frequency of approximately 1:1000. The main symptom is the formation of fluid-filled cysts in the kidneys a...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Koptides M,Mean R,Demetriou K,Constantinides R,Pierides A,Harris PC,Deltas CC

    更新日期:2000-08-01 00:00:00

  • Genetic and functional analyses of ZIC3 variants in congenital heart disease.

    abstract::Mutations in zinc-finger in cerebellum 3 (ZIC3) result in heterotaxy or isolated congenital heart disease (CHD). The majority of reported mutations cluster in zinc-finger domains. We previously demonstrated that many of these lead to aberrant ZIC3 subcellular trafficking. A relative paucity of N- and C-terminal mutati...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Cowan J,Tariq M,Ware SM

    更新日期:2014-01-01 00:00:00

  • Molecular basis of choroideremia (CHM): mutations involving the Rab escort protein-1 (REP-1) gene.

    abstract::Choroideremia (CHM) is an X-linked recessive eye disease that results from mutations involving the Rab escort protein-1 (REP-1) gene. In 18 patients deletions of different sizes have been found. Two females suffering from CHM were reported to have translocations that disrupt the REP-1 gene. In 22 patients, small mutat...

    journal_title:Human mutation

    pub_type: 杂志文章,评审


    authors: van den Hurk JA,Schwartz M,van Bokhoven H,van de Pol TJ,Bogerd L,Pinckers AJ,Bleeker-Wagemakers EM,Pawlowitzki IH,Rüther K,Ropers HH,Cremers FP

    更新日期:1997-01-01 00:00:00

  • Novel SCA19/22-associated KCND3 mutations disrupt human KV 4.3 protein biosynthesis and channel gating.

    abstract::Mutations in the human voltage-gated K+ channel subunit KV 4.3-encoding KCND3 gene have been associated with the autosomal dominant neurodegenerative disorder spinocerebellar ataxia types 19 and 22 (SCA19/22). The precise pathophysiology underlying the dominant inheritance pattern of SCA19/22 remains elusive. Using ce...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Hsiao CT,Fu SJ,Liu YT,Lu YH,Zhong CY,Tang CY,Soong BW,Jeng CJ

    更新日期:2019-11-01 00:00:00

  • Rapid detection of submicroscopic chromosomal rearrangements in children with multiple congenital anomalies using high density oligonucleotide arrays.

    abstract::Chromosomal rearrangements such as microdeletions and interstitial duplications are the underlying cause of many human genetic disorders. These disorders can manifest in the form of multiple congenital anomalies (MCA), which are a significant cause of morbidity and mortality in children. The major limitations of cytog...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Ming JE,Geiger E,James AC,Ciprero KL,Nimmakayalu M,Zhang Y,Huang A,Vaddi M,Rappaport E,Zackai EH,Shaikh TH

    更新日期:2006-05-01 00:00:00

  • High throughput detection of microsatellite instability by denaturing high-performance liquid chromatography.

    abstract::Microsatellite instability (MSI) is a hallmark of the DNA replication error phenotype, due to the inactivation of mismatch repair genes. MSI has been implicated in colon and many other gastrointestinal cancers. MSI usually can be analyzed by PCR amplification of microsatellite markers followed by electrophoresis and d...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pan KF,Liu W,Lu YY,Zhang L,Li ZP,Lu WL,Thibodeau SN,You WC

    更新日期:2003-11-01 00:00:00

  • Apolipoprotein A-IV polymorphism in the Hungarian population: gene frequencies, effect on lipid levels, and sequence of two new variants.

    abstract::The genetic polymorphism of human apolipoprotein A-IV was investigated in Hungarian blood donors (n = 202) by isoelectric focusing (IEF) of plasma samples followed by immunoblotting. The frequency of apo A-IV alleles was f(A-IV1) = 0.95, f(A-IV2) = 0.039 and f(A-IV3) = 0.002. This frequency distribution is significant...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Menzel HJ,Dieplinger H,Sandholzer C,Karádi I,Utermann G,Császár A

    更新日期:1995-01-01 00:00:00

  • Evidence of association of APOE with age-related macular degeneration: a pooled analysis of 15 studies.

    abstract::Age-related macular degeneration (AMD) is the most common cause of incurable visual impairment in high-income countries. Previous studies report inconsistent associations between AMD and apolipoprotein E (APOE), a lipid transport protein involved in low-density cholesterol modulation. Potential interaction between APO...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: McKay GJ,Patterson CC,Chakravarthy U,Dasari S,Klaver CC,Vingerling JR,Ho L,de Jong PT,Fletcher AE,Young IS,Seland JH,Rahu M,Soubrane G,Tomazzoli L,Topouzis F,Vioque J,Hingorani AD,Sofat R,Dean M,Sawitzke J,Seddon

    更新日期:2011-12-01 00:00:00

  • BBS genotype-phenotype assessment of a multiethnic patient cohort calls for a revision of the disease definition.

    abstract::Bardet-Biedl syndrome (BBS) is a ciliopathy characterized by retinal degeneration, obesity, polydactyly, renal abnormalities, and cognitive impairment for which 15 causative genes have been identified. Here we present the results of a mutational analysis of our multiethnic cohort of 83 families (105 cases); 75.9% of t...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Deveault C,Billingsley G,Duncan JL,Bin J,Theal R,Vincent A,Fieggen KJ,Gerth C,Noordeh N,Traboulsi EI,Fishman GA,Chitayat D,Knueppel T,Millán JM,Munier FL,Kennedy D,Jacobson SG,Innes AM,Mitchell GA,Boycott K,Héon E

    更新日期:2011-06-01 00:00:00

  • Expanding the Molecular and Clinical Phenotype of SSR4-CDG.

    abstract::Congenital disorders of glycosylation (CDG) are a group of mostly autosomal recessive disorders primarily characterized by neurological abnormalities. Recently, we described a single CDG patient with a de novo mutation in the X-linked gene, Signal Sequence Receptor 4 (SSR4). We performed whole-exome sequencing to iden...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Ng BG,Raymond K,Kircher M,Buckingham KJ,Wood T,Shendure J,Nickerson DA,Bamshad MJ,University of Washington Center for Mendelian Genomics.,Wong JT,Monteiro FP,Graham BH,Jackson S,Sparkes R,Scheuerle AE,Cathey S,Kok F,Gib

    更新日期:2015-11-01 00:00:00

  • Novel CASK mutations in cases with syndromic microcephaly.

    abstract::Mutations in CASK cause a wide spectrum of phenotypes in humans ranging from mild X-linked intellectual disability to a severe microcephaly (MC) and pontocerebellar hypoplasia syndrome. Nevertheless, predicting pathogenicity and phenotypic consequences of novel CASK mutations through the exclusive consideration of gen...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Cristofoli F,Devriendt K,Davis EE,Van Esch H,Vermeesch JR

    更新日期:2018-07-01 00:00:00

  • Identification of 16 novel mutations in the argininosuccinate synthetase gene and genotype-phenotype correlation in 38 classical citrullinemia patients.

    abstract::Classical citrullinemia (CTLN1), a rare autosomal recessive disorder, is caused by mutations of the argininosuccinate synthetase (ASS) gene, localized on chromosome 9q34.1. ASS functions as a rate-limiting enzyme in the urea cycle. Previously, we identified 32 mutations in the ASS gene of CTLN1 patients mainly in Japa...

    journal_title:Human mutation

    pub_type: 杂志文章,多中心研究


    authors: Gao HZ,Kobayashi K,Tabata A,Tsuge H,Iijima M,Yasuda T,Kalkanoglu HS,Dursun A,Tokatli A,Coskun T,Trefz FK,Skladal D,Mandel H,Seidel J,Kodama S,Shirane S,Ichida T,Makino S,Yoshino M,Kang JH,Mizuguchi M,Barshop BA

    更新日期:2003-07-01 00:00:00

  • NKX2-1 mutations leading to surfactant protein promoter dysregulation cause interstitial lung disease in "Brain-Lung-Thyroid Syndrome".

    abstract::NKX2-1 (NK2 homeobox 1) is a critical regulator of transcription for the surfactant protein (SP)-B and -C genes (SFTPB and SFTPC, respectively). We identified and functionally characterized two new de novo NKX2-1 mutations c.493C>T (p.R165W) and c.786_787del2 (p.L263fs) in infants with closely similar severe interstit...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Guillot L,Carré A,Szinnai G,Castanet M,Tron E,Jaubert F,Broutin I,Counil F,Feldmann D,Clement A,Polak M,Epaud R

    更新日期:2010-02-01 00:00:00

  • Functional analyses of human and zebrafish 18-amino acid in-frame deletion pave the way for domain mapping of the cerebral cavernous malformation 3 protein.

    abstract::Cerebral cavernous malformations (CCMs) may cause recurrent headaches, seizures, and hemorrhagic stroke and have been associated with loss-of-function mutations in CCM1/KRIT1, CCM2, and CCM3/programmed cell death 10 (PDCD10). The CCM3/PDCD10 amino acid sequence does not reveal significant homologies to protein domains...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Voss K,Stahl S,Hogan BM,Reinders J,Schleider E,Schulte-Merker S,Felbor U

    更新日期:2009-06-01 00:00:00

  • Mutations of the human BTK gene coding for bruton tyrosine kinase in X-linked agammaglobulinemia.

    abstract::X-linked agammaglobulinemia (XLA) is an immunodeficiency caused by mutations in the gene coding for Bruton agammaglobulinemia tyrosine kinase (BTK). A database (BTKbase) of BTK mutations lists 544 mutation entries from 471 unrelated families showing 341 unique molecular events. In addition to mutations, a number of va...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Vihinen M,Kwan SP,Lester T,Ochs HD,Resnick I,Väliaho J,Conley ME,Smith CI

    更新日期:1999-01-01 00:00:00

  • New point mutation (R243W) in the hormone binding domain of the c-erbA beta 1 gene in a family with generalized resistance to thyroid hormone.

    abstract::Two years after the first mutation on exon 7 in the carboxy-terminal part of the hinge domain (D) was reported (Behr and Loos 1992), we have identified the second mutation on exon 7 in patients with GRTH. Interestingly, our mutation it is not located in the two previously described "hot spot regions", but instead very...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Pohlenz J,Schönberger W,Wemme H,Winterpacht A,Wirth S,Zabel B

    更新日期:1996-01-01 00:00:00

  • Mutation spectrum in patients with Rett syndrome in the German population: Evidence of hot spot regions.

    abstract::Mutations in the MECP2 (Methyl-CpG-binding protein) gene recently have been reported to cause Rett syndrome (RTT), an X-linked dominant neurodevelopmental disease. We investigated 125 sporadic cases of Rett syndrome by direct sequencing. Thirty different mutations were found in 97 patients with Rett syndrome. Seventee...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Laccone F,Huppke P,Hanefeld F,Meins M

    更新日期:2001-03-01 00:00:00

  • MEFV mutations in Behçet's disease.

    abstract::Familial Mediterranean fever (FMF) and Behçet's disease (BD), both inflammatory diseases, are highly prevalent in the Middle Eastern and Mediterranean populations. FMF is a Mendelian autosomic recessive disease linked to MEFV, a gene of unknown function. BD in contrast is a polyfactorial disease associated with the ma...

    journal_title:Human mutation

    pub_type: 杂志文章,多中心研究


    authors: Touitou I,Magne X,Molinari N,Navarro A,Quellec AL,Picco P,Seri M,Ozen S,Bakkaloglu A,Karaduman A,Garnier JM,Demaille J,Koné-Paut I

    更新日期:2000-09-01 00:00:00

  • High-resolution breakpoint analysis provides evidence for the sequence-directed nature of genome rearrangements in hereditary disorders.

    abstract::Although most of the pertinent data on the sequence-directed processes leading to genome rearrangements (GRs) have come from studies on somatic tissues, little is known about GRs in the germ line of patients with hereditary disorders. This study aims at identifying DNA motifs and higher order structures of genome arch...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Kovac MB,Kovacova M,Bachraty H,Bachrata K,Piscuoglio S,Hutter P,Ilencikova D,Bartosova Z,Tomlinson I,Roethlisberger B,Heinimann K

    更新日期:2015-02-01 00:00:00

  • Identification of two novel LDL receptor gene defects in French-Canadian pediatric population: mutational analysis and biochemical studies.

    abstract::Familial hypercholesterolemia (FH) is at least twofold more prevalent in French Canadians from Québec than in most Western populations. Although our recent data confirmed this high frequency of heterozygous FH in our pediatric population with hypercholesterolemia, none of the five established molecular defects for the...

    journal_title:Human mutation

    pub_type: 杂志文章


    authors: Assouline L,Leitersdorf E,Lambert M,Reshef A,Feoli-Fonseca JC,Levy E

    更新日期:1997-01-01 00:00:00